CDSN corneodesmosin [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDSNprovided by HGNC
Official Full Name: corneodesmosinprovided by HGNC
Primary source: HGNC:HGNC:1802
See related: Ensembl:ENSG00000204539 MIM:602593; AllianceGenome:HGNC:1802
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSS; HTSS; PSS1; HTSS1; HYPT2
Summary: This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]
Expression: Restricted expression toward skin (RPKM 78.3) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31115087..31120446, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (30982815..30988170, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31082864..31088223, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mature IL-36gamma Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin.
Title: Mature IL-36γ Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin.
Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease.
Title: Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease.
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
Title: Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
Title: Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. However, the age dependent associations need to be validated in larger sample sizes as well as in other populations.
Title: HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.
We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P
Title: Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
Investigated potential direct protein-protein interactions between six late cornified envelope (LCE) proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin.
Title: Analysis of protein-protein interaction between late cornified envelope proteins and corneodesmosin.
we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression
Title: Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.
Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease.
Title: Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease.
PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis
Title: PSORS1C1/CDSN is associated with ankylosing spondylitis.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypotrichosis 2 MedGen: C1840299 OMIM: 146520 GeneReviews: Not available	not available
Peeling skin syndrome 1 MedGen: C1849193 OMIM: 270300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variation and the control of HIV-1 in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S276 (e-PCR), detects polymorphism
- UniSTS:64271

D6S1727 (e-PCR)
- UniSTS:59677

RH15771 (e-PCR)
- UniSTS:76631

D6S1607 (e-PCR)
- UniSTS:50851

RH17634 (e-PCR)
- UniSTS:27107

D6S1701 (e-PCR), detects polymorphism
- UniSTS:55542

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid fibril formation	EXP Inferred from Experiment more info	PubMed
involved_in amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in corneocyte desquamation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in keratinocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cornification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell-cell junction	TAS Traceable Author Statement more info	PubMed
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: corneodesmosin

Names: S protein; differentiated keratinocyte S protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.